Canonical Allele Identifier: CA152202

Gene: CC2D1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13913456C>T , CM000681.2:g.13913456C>T	GRCh38
NC_000019.9:g.14024269C>T , CM000681.1:g.14024269C>T	GRCh37
NC_000019.8:g.13885269C>T	NCBI36
NG_013089.1:g.12314C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017721.5:c.566C>T MANE Select	NP_060191.3:p.Ala189Val
ENST00000318003.11:c.566C>T MANE Select	ENSP00000313601.6:p.Ala189Val
NM_017721.4:c.566C>T	NP_060191.3:p.Ala189Val
ENST00000585896.5:n.623C>T
ENST00000586955.5:c.103C>T
ENST00000589606.5:c.566C>T	ENSP00000467526.1:p.Ala189Val
ENST00000680439.1:n.724C>T
XM_005259972.2:c.566C>T	XP_005260029.1:p.Ala189Val
XM_005259973.2:c.566C>T	XP_005260030.1:p.Ala189Val
XM_005259973.3:c.566C>T	XP_005260030.1:p.Ala189Val
XM_005259974.2:c.566C>T	XP_005260031.1:p.Ala189Val
XM_005259974.3:c.566C>T	XP_005260031.1:p.Ala189Val
XM_005259975.2:c.566C>T	XP_005260032.1:p.Ala189Val
XM_024451562.1:c.566C>T	XP_024307330.1:p.Ala189Val
XM_024451563.1:c.566C>T	XP_024307331.1:p.Ala189Val
XM_024451564.1:c.566C>T	XP_024307332.1:p.Ala189Val
XM_024451565.1:c.566C>T	XP_024307333.1:p.Ala189Val